Source: CLINVAR ×
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		237 0 1 4.2E-03 0 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		10 0 1 8.3E-02 0 0
CUI: C0013132
Disease: Drooling
Drooling 		14 0 1 6.2E-02 0 0
CUI: C0016242
Disease: Vitreous floaters
Vitreous floaters 		1 0 1 0.33 0 0
CUI: C0020581
Disease: Hyphema
Hyphema 		1 0 1 0.33 0 0
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		3 7 1 0.20 3 0.11
CUI: C0024636
Disease: Malocclusion
Malocclusion 		6 0 1 0.12 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 0 1 2.1E-02 0 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		7 11 1 0.11 1 2.9E-02
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		1 0 1 0.33 0 0
CUI: C0027092
Disease: Myopia
Myopia 		45 0 1 2.1E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 0 1 1.5E-02 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		14 0 1 6.2E-02 0 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		9 0 1 9.1E-02 0 0
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		3 0 1 0.20 0 0
CUI: C0085610
Disease: Sinus bradycardia
Sinus bradycardia 		2 0 1 0.25 0 0
CUI: C0154856
Disease: Retinal lattice degeneration
Retinal lattice degeneration 		2 0 1 0.25 0 0
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1 11 1 0.33 3 9.4E-02
CUI: C0233286
Disease: Frank Breech Presentation
Frank Breech Presentation 		1 0 1 0.33 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		10 0 1 8.3E-02 0 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		12 0 1 7.1E-02 0 0
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		2 0 1 0.25 0 0
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		1 6 1 0.33 3 0.11
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment 		1 0 1 0.33 0 0
CUI: C0271183
Disease: Severe myopia
Severe myopia 		16 0 1 5.6E-02 0 0